Linked Data
gnomAD v4:
4-4862776-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862776_4862777insT , CM000666.2:g.4862776_4862777insT | GRCh38 |
| NC_000004.11:g.4864503_4864504insT , CM000666.1:g.4864503_4864504insT | GRCh37 |
| NC_000004.10:g.4915404_4915405insT | NCBI36 |
| NG_008121.1:g.8112_8113insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.545_546insT MANE Select | ENSP00000372170.4:p.Gln183AlafsTer? | |
| ENST00000382723.4:c.545_546insT | ENSP00000372170.4:p.Gln183AlafsTer? | |
| ENST00000468421.1:n.257_258insT | ||
| NM_002448.3:c.545_546insT MANE Select | NP_002439.2:p.Gln183AlafsTer? |